Variant | Gene | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Num. diseases |
---|---|---|---|---|---|---|---|---|---|---|---|
rs587776885 | 1.000 | 0.040 | 12 | 111418745 | frameshift variant | GCGCT/- | delins | 1 | |||
rs3184504 | 0.572 | 0.600 | 12 | 111446804 | missense variant | T/A;C;G | snv | 0.67 | 92 | ||
rs318699 | 0.882 | 0.080 | 19 | 11390564 | intron variant | A/G | snv | 0.73 | 3 | ||
rs1555760738 | 0.925 | 0.040 | 19 | 12943751 | splice donor variant | CTTAAGGAGGAGGAAGAAGACAAGAAACGCAAAGAGGAGGAGGAGGCAGAGG/- | delins | 2 | |||
rs377467108 | 0.882 | 0.120 | 7 | 148827254 | missense variant | C/A;T | snv | 6.4E-05 | 3 | ||
rs879255237 | 0.807 | 0.160 | 1 | 150077763 | missense variant | C/A | snv | 7 | |||
rs1131691903 | 0.882 | 0.160 | 1 | 150093558 | missense variant | C/T | snv | 4 | |||
rs121913499 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 51 | |||
rs4858647 | 0.925 | 0.080 | 3 | 24749884 | intron variant | C/A;G;T | snv | 2 | |||
rs1456725200 | 1.000 | 0.040 | 2 | 25246661 | missense variant | C/A;T | snv | 1 | |||
rs758881009 | 1.000 | 0.040 | 2 | 25247628 | missense variant | C/A;T | snv | 8.0E-06; 2.4E-05 | 1 | ||
rs879255268 | 0.925 | 0.040 | 20 | 37403347 | missense variant | G/A | snv | 3 | |||
rs146249964 | 0.851 | 0.080 | 1 | 43337929 | splice donor variant | T/A | snv | 4.0E-04 | 1.7E-04 | 5 | |
rs121913614 | 0.790 | 0.120 | 1 | 43349308 | missense variant | G/A | snv | 7 | |||
rs121913616 | 0.790 | 0.120 | 1 | 43349337 | missense variant | TG/AA | mnv | 8 | |||
rs121913615 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 25 | ||
rs10815148 | 0.882 | 0.080 | 9 | 5057284 | intron variant | T/A | snv | 0.33 | 3 | ||
rs12342421 | 0.851 | 0.080 | 9 | 5065750 | intron variant | G/C | snv | 0.23 | 5 | ||
rs10974944 | 0.882 | 0.160 | 9 | 5070831 | intron variant | C/G | snv | 0.25 | 4 | ||
rs10974947 | 0.882 | 0.080 | 9 | 5072846 | intron variant | G/A | snv | 0.23 | 3 | ||
rs77375493 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 187 | ||
rs121913505 | 0.925 | 0.080 | 4 | 54695598 | missense variant | G/A | snv | 2.0E-05 | 2 | ||
rs121912656 | 0.662 | 0.560 | 17 | 7674229 | missense variant | C/A;G;T | snv | 4.0E-06; 4.0E-06 | 28 | ||
rs28934578 | 0.605 | 0.600 | 17 | 7675088 | missense variant | C/A;T | snv | 4.0E-06 | 47 | ||
rs1131691026 | 0.925 | 0.160 | 17 | 7675174 | stop gained | C/T | snv | 3 |